ANK2, ankyrin 2, 287

N. diseases: 71; N. variants: 37
Disease: Romano-Ward Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.300 GermlineCausalMutation disease ORPHANET The genetic basis of long QT and short QT syndromes: a mutation update. 19862833 2009
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.300 GermlineCausalMutation disease ORPHANET "Defining the cellular phenotype of ""ankyrin-B syndrome"" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes." 17242276 2007
CUI: C0035828
Disease: Romano-Ward Syndrome
Romano-Ward Syndrome 		0.300 GermlineCausalMutation disease ORPHANET Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. 12571597 2003